| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.72313728C>T | CA2956879 | ADAMTS3 | c.1694G>A (p.Arg565Gln) c.1637G>A (p.Arg546Gln) c.1610G>A (p.Arg537Gln) c.1052G>A (p.Arg351Gln) c.962G>A (p.Arg321Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313728C= | CA1467599874 | ADAMTS3 | c.1694G= (p.Arg565=) c.1637G= (p.Arg546=) c.1610G= (p.Arg537=) c.1052G= (p.Arg351=) c.962G= (p.Arg321=) | dbSNP |